A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity-Reference-Cited by-同舟云学术

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A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity

Published:2020-06 Issue:6 Volume:63 Page:103917
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Nabil Amira,El Shafei Sahar,El Shakankiri Nihal M.,Habib Ahmed,Morsy Heba,Maddirevula Sateesh,Alkuraya Fowzan S.

Funder

Saudi Human Genome Program

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference20 articles.

1. cDNA sequence and gene locus of the human retinal phosphoinositide-specific phospholipase-Cβ4 (PLCB4);Alvarez;Genomics,1995

2. Congenital thymic cyst;Bruyère;JBR-BTR,2007

3. November). Understanding the basis of auriculocondylar syndrome: insights from human, mouse and zebrafish genetic studies;Clouthier;Am. J. Med. Genet. Part C: Seminars in Medical Genetics,2013

4. The question mark ear;Cosman;Plast. Reconstr. Surg.,1970

5. Question mark ears and post-auricular tags;Gerkes;Eur. J. Med. Genet.,2008

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1. Novel GNAI3 mutation in a Chinese family with auriculocondylar syndrome and treatment of severe dentofacial deformities: a 5-year follow-up case report;BMC Oral Health;2024-07-16

2. Novel GNAI3 mutation in a Chinese auriculocondylar syndrome family and treatment of severe dentofacial deformities: A 5-years follow-up case report;2024-04-10

3. Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature;Molecular Genetics & Genomic Medicine;2024-04

4. Phospholipase C β4 promotes RANKL-dependent osteoclastogenesis by interacting with MKK3 and p38 MAPK;2024-03-23

5. Two Chinese Patients of Auriculocondylar Syndrome 2: A Novel PLCB4 Splicing Variant and 5-Year Follow-up;The Cleft Palate Craniofacial Journal;2024-02-28

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